These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 30920170)

  • 1. Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
    Maffezzini C; Laine I; Dallabona C; Clemente P; Calvo-Garrido J; Wibom R; Naess K; Barbaro M; Falk A; Donnini C; Freyer C; Wredenberg A; Wedell A
    Mol Genet Genomic Med; 2019 Jun; 7(6):e654. PubMed ID: 30920170
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
    Theisen BE; Rumyantseva A; Cohen JS; Alcaraz WA; Shinde DN; Tang S; Srivastava S; Pevsner J; Trifunovic A; Fatemi A
    Am J Med Genet A; 2017 Sep; 173(9):2505-2510. PubMed ID: 28650581
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
    Vantroys E; Smet J; Vanlander AV; Vergult S; De Bruyne R; Roels F; Stepman H; Roeyers H; Menten B; Van Coster R
    Orphanet J Rare Dis; 2018 May; 13(1):80. PubMed ID: 29783990
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
    Wortmann SB; Timal S; Venselaar H; Wintjes LT; Kopajtich R; Feichtinger RG; Onnekink C; Mühlmeister M; Brandt U; Smeitink JA; Veltman JA; Sperl W; Lefeber D; Pruijn G; Stojanovic V; Freisinger P; V Spronsen F; Derks TG; Veenstra-Knol HE; Mayr JA; Rötig A; Tarnopolsky M; Prokisch H; Rodenburg RJ
    Hum Mutat; 2017 Dec; 38(12):1786-1795. PubMed ID: 28905505
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
    Almalki A; Alston CL; Parker A; Simonic I; Mehta SG; He L; Reza M; Oliveira JM; Lightowlers RN; McFarland R; Taylor RW; Chrzanowska-Lightowlers ZM
    Biochim Biophys Acta; 2014 Jan; 1842(1):56-64. PubMed ID: 24161539
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.
    Burke EA; Frucht SJ; Thompson K; Wolfe LA; Yokoyama T; Bertoni M; Huang Y; Sincan M; Adams DR; Taylor RW; Gahl WA; Toro C; Malicdan MCV
    Clin Genet; 2018 Mar; 93(3):712-718. PubMed ID: 29120065
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
    Musante L; Püttmann L; Kahrizi K; Garshasbi M; Hu H; Stehr H; Lipkowitz B; Otto S; Jensen LR; Tzschach A; Jamali P; Wienker T; Najmabadi H; Ropers HH; Kuss AW
    Hum Mutat; 2017 Jun; 38(6):621-636. PubMed ID: 28236339
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases.
    Figuccia S; Izzo R; Legati A; Nasca A; Goffrini P; Ghezzi D; Ceccatelli Berti C
    Hum Mol Genet; 2024 Sep; 33(18):1630-1641. PubMed ID: 39230874
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
    Coughlin CR; Scharer GH; Friederich MW; Yu HC; Geiger EA; Creadon-Swindell G; Collins AE; Vanlander AV; Coster RV; Powell CA; Swanson MA; Minczuk M; Van Hove JL; Shaikh TH
    J Med Genet; 2015 Aug; 52(8):532-40. PubMed ID: 25787132
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MSW, a yeast gene coding for mitochondrial tryptophanyl-tRNA synthetase.
    Myers AM; Tzagoloff A
    J Biol Chem; 1985 Dec; 260(28):15371-7. PubMed ID: 2999114
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A relatively common hypomorphic variant in WARS2 causes monogenic disease.
    Ilinca A; Kafantari E; Puschmann A
    Parkinsonism Relat Disord; 2022 Jan; 94():129-131. PubMed ID: 35074316
    [No Abstract]   [Full Text] [Related]  

  • 12. Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.
    Virdee M; Swarnalingam E; Kozenko M; Tarnopolsky M; Jones K
    J Child Neurol; 2019 Oct; 34(12):778-781. PubMed ID: 31282308
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of a Novel Variant in
    Barbosa-Gouveia S; González-Vioque E; Hermida Á; Suarez MU; Martínez-González MJ; Borges F; Wintjes L; Kappen A; Rodenburg R; Couce ML
    Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887222
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
    Martinelli S; Cordeddu V; Galosi S; Lanzo A; Palma E; Pannone L; Ciolfi A; Di Nottia M; Rizza T; Bocchinfuso G; Traversa A; Caputo V; Farrotti A; Carducci C; Bernardini L; Cogo S; Paglione M; Venditti M; Bentivoglio A; Ng J; Kurian MA; Civiero L; Greggio E; Stella L; Trettel F; Sciaccaluga M; Roseti C; Carrozzo R; Fucile S; Limatola C; Di Schiavi E; Tartaglia M; Leuzzi V
    Parkinsonism Relat Disord; 2020 Mar; 72():75-79. PubMed ID: 32120303
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
    Itoh M; Dai H; Horike SI; Gonzalez J; Kitami Y; Meguro-Horike M; Kuki I; Shimakawa S; Yoshinaga H; Ota Y; Okazaki T; Maegaki Y; Nabatame S; Okazaki S; Kawawaki H; Ueno N; Goto YI; Kato Y
    Brain; 2019 Mar; 142(3):560-573. PubMed ID: 30715177
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
    Stephen J; Nampoothiri S; Banerjee A; Tolman NJ; Penninger JM; Elling U; Agu CA; Burke JD; Devadathan K; Kannan R; Huang Y; Steinbach PJ; Martinis SA; Gahl WA; Malicdan MCV
    Hum Genet; 2018 Apr; 137(4):293-303. PubMed ID: 29691655
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
    Ni M; Black LF; Pan C; Vu H; Pei J; Ko B; Cai L; Solmonson A; Yang C; Nugent KM; Grishin NV; Xing C; Roeder E; DeBerardinis RJ
    J Inherit Metab Dis; 2021 Jul; 44(4):949-960. PubMed ID: 33855712
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
    Zhang X; Ling J; Barcia G; Jing L; Wu J; Barry BJ; Mochida GH; Hill RS; Weimer JM; Stein Q; Poduri A; Partlow JN; Ville D; Dulac O; Yu TW; Lam AT; Servattalab S; Rodriguez J; Boddaert N; Munnich A; Colleaux L; Zon LI; Söll D; Walsh CA; Nabbout R
    Am J Hum Genet; 2014 Apr; 94(4):547-58. PubMed ID: 24656866
    [TBL] [Abstract][Full Text] [Related]  

  • 19. WRS-85D: A tryptophanyl-tRNA synthetase expressed to high levels in the developing Drosophila salivary gland.
    Seshaiah P; Andrew DJ
    Mol Biol Cell; 1999 May; 10(5):1595-608. PubMed ID: 10233165
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hearing impairment-associated KARS mutations lead to defects in aminoacylation of both cytoplasmic and mitochondrial tRNA
    Wang Y; Zhou JB; Zeng QY; Wu S; Xue MQ; Fang P; Wang ED; Zhou XL
    Sci China Life Sci; 2020 Aug; 63(8):1227-1239. PubMed ID: 32189241
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.